Canonical Allele Identifier: CA2581679

Gene: UMPS

Linked Data

• dbSNP Id: rs774761291
• ExAC: 3:124456660 C / G
• gnomAD v2: 3-124456660-C-G
• gnomAD v4: 3-124737813-C-G
• MyVariant Identifiers: chr3:g.124456660C>G (hg19) ; chr3:g.124737813C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737813C>G , CM000665.2:g.124737813C>G	GRCh38
NC_000003.11:g.124456660C>G , CM000665.1:g.124456660C>G	GRCh37
NC_000003.10:g.125939350C>G	NCBI36
NG_017037.1:g.12448C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232607.7:c.556C>G MANE Select	ENSP00000232607.2:p.Gln186Glu
ENST00000232607.6:c.556C>G	ENSP00000232607.2:p.Gln186Glu
ENST00000460034.5:c.*300C>G	ENSP00000420409.1:n.*300C>G
ENST00000462091.5:c.*228C>G	ENSP00000417893.1:n.*228C>G
ENST00000467167.5:c.*454C>G	ENSP00000419618.1:n.*454C>G
ENST00000474588.5:c.311-102C>G	ENSP00000420348.1:n.311-102C>G
ENST00000479719.5:c.556C>G	ENSP00000420754.1:p.Gln186Glu
ENST00000497791.5:c.*228C>G	ENSP00000419121.1:n.*228C>G
ENST00000498715.1:n.274C>G
NM_000373.3:c.556C>G	NP_000364.1:p.Gln186Glu
NR_033434.1:n.508C>G
NR_033437.1:n.761C>G
XR_001740253.2:n.586C>G
NM_000373.4:c.556C>G MANE Select	NP_000364.1:p.Gln186Glu
NR_033434.2:n.422C>G
NR_033437.2:n.675C>G